View Larger Version of this Image (145K GIF file)] On arrival to our hospital, the infant was stabilized in the emergency department and admitted to the intensive care unit. Further anticonvulsant therapy as well as endotracheal intubation was required. Neurosurgical and social work evaluations were instituted immediately. Ophthalmological consultation reported bilateral retinal hemorrhages. The initial assessment of the emergency medicine and intensive care physicians was that of nonaccidental injury. A report was filed with the Department of Child and Youth Services. A state investigator for the Division of Child Protection interviewed the family and examined the child 24 hours after the patient's admission to the hospital. The police were notified shortly thereafter and photographed the infant's dermatologic findings. The diagnosis became clearer with pediatric dermatologic con-sultation that recognized the ecchymoses to be hyperpigmented swirls that followed the lines of Blaschko. Within 24 hours, vesicles appeared with patterning along Blaschko's lines. Further probing of the family history revealed the maternal grandmother had multiple miscarriages; the maternal grandmother and the maternal great grandmother had early-onset cataracts; the maternal grandmother had retinal detachment; and the mother and the maternal aunts had similar skin findings as children (one maternal aunt has persistent skin lesions as an adult). The family history in conjunction with the neurologic, ophthalmologic, and especially the dermatologic findings pointed to the diagnosis of the X-linked dominant genetic disorder IP. Skin biopsy confirmed the diagnosis. Case 2 The second patient is a 1-month-old Hispanic girl who was brought to the emergency department by her parents because of a worsening skin rash. The neonate was an 8 lb, 3 oz product of a full-term gestation to a 33-year-old gravida 5 para 3 mother after an uncomplicated pregnancy. She was born via cesarean section because of a nuchal cord. There were no problems in the nursery and she went home with her mother. At approximately 2 weeks of age the patient developed vesicular lesions on her back and arms that crusted over shortly thereafter (Fig 4). The patient's pediatrician referred the infant to a dermatologist who made the diagnosis of impetigo. New skin lesions developed in addition to the impetiginous ones over the patient's third week of life. During a visit with her pediatrician at 24 days of life, hyperpigmented linear lesions were noted on the patient's trunk and faintly on the extremities (Fig 5). Poor weight gain was documented (weight 25th percentile, length 50th percentile). The hair, (limited) ophthalmologic, and neurologic examinations were normal. Nonaccidental injury and neglect were suspected and a social worker was notified for consultation. The state Department of Child and Youth Services was contacted for further investigation.

The next day additional hyperpigmented linear lesions were noted by the mother on the infant's trunk and extremities. The family brought the infant to the emergency department for a second opinion and further evaluation. The family history revealed that the patient's mother had two prior miscarriages and the maternal grandmother had three miscarriages as well as three healthy daughters. The mother denied having any dermatologic disorders as a child, though on examination she did have several barely visible areas of decreased pigmentation in linear streaks on the back of her legs. Based primarily on the dermatologic findings, the clinical diagnosis of IP was made by the pediatric emergency physician and confirmed by a pediatric dermatologist. Future evaluations with neurology, ophthalmology, and genetics were arranged; social services was made aware of the diagnosis. DISCUSSION Suspected nonaccidental injury must be reported to the appropriate authorities. Misdiagnosed cases of child abuse also deserve reporting to prevent recurrent misinterpretation by others. Many examples of cutaneous disorders that were misdiagnosed as a result of suspicious findings have been published.8 These are the first published case reports of IP as a potential masquerader of child abuse. IP is a rare genodermatosis. It is a multisystem, neuroectodermal disorder characterized by dermatologic, dental and, in a minority of patients, ocular and neurologic abnormalities. The name IP describes the characteristic, although nonspecific, histological finding of incontinence of melanin in the superficial dermis.17 The cutaneous manifestations of IP are diagnostic. Although four stages have been described, all stages do not necessarily occur and several stages may overlap.17 The lesions of the first stage, collections of linear vesicles overlying erythema, usually develop within the first 6 weeks of life. This initial inflammatory phase is often accompanied by a marked peripheral blood leukocytosis with eosinophilia.18 These lesions can be mistaken for bullous impetigo, herpes simplex, epidermolysis bullosa, dermatitis herpetiformis, or even second degree burn injury.19 Biopsy sections of lesional skin demonstrate intraepidermal pustules of eosinophils, allowing the diagnosis of IP to be confirmed. By the first few months the second phase is seen, with verrucous plaques, often in a linear configuration. The lesions of stage 3 are considered the hallmark of IP. The hyperpigmentation can be very localized or extensive, but presents as streaks on the extremities or whorls on the trunk. These pigmented lesions remain static for several years until they fade during childhood or adolescence.19 Some patients have localized areas of persistent pigmentation. In other patients, flares of the vesiculopustular or even the verrucous lesions occur. The fourth phase of hypopigmented and/or atrophic streaks occurs in 14% and 28% of patients respectively, and may persist into adulthood. Approximately 30% of patients have cicatricial alopecia, which may be the only persistent sign in adult women.18 All of the cutaneous manifestations show patterning along Blaschko's lines, paths of ectodermal cell migration during embryologic development of the skin. This X-linked dominant disorder is generally lethal for affected boys who do not have a normal X chromosome. However, functional mosaicism occurs in affected girls because of random inactivation of the X chromosome at 12 to 16 days gestation. Expression of the IP as streaks occurs with activation of the mutant gene. Within the spectrum of IP are girls with minimal involvement and others with extensive involvement, as in both of our patients. Central nervous system manifestations probably require fairly extensive activation of the mutant gene or disturbance of critical brain regions. Seizures, as seen in case 1, are the most common disturbance and have been described in approximately 13% of patients.18 The CT scan findings of the brain of patient 1 are consistent with the expected neuropathologic findings of hemorrhagic white matter encephalopathy with massive edema. Atrophy eventually develops.19 Ocular anomalies occur in one third of IP patients, particularly strabismus and cataracts. (Patient 2 was found to have a moderate left eye esotropia on ophthalmologic follow-up examination at 6 months of age.) Retinal vascular changes, as evidenced in our first patient with hemorrhages and cotton wool spots, are the most frequently reported intraocular abnormalities, and can lead to blindness. Pseudoglioma, a fibrovascular retrolental mass, can evolve to retinal detachment, as in the maternal grandmother of patient 1. This mechanism is thought to be analogous to retinopathy of prematurity.20 These two cases stress the importance of disease recognition by pediatric specialists, and of a thorough family and social history. In our first case, the maternal grandmother's previous involvement with the Department of Child and Youth Services was considered to be evidence in favor of nonaccidental injury. Victims of child maltreatment are more likely to become abusive parents.3 Further exploration provided pivotal information against nonaccidental injury, in that it was the mother's characteristic IP skin lesions that had twice (at age 6 and age 10 years) been misinterpreted as possible intentional injury. IP is rare and is frequently recognized only by pediatric specialists. This illness is vulnerable to misdiagnosis given that the cutaneous findings alone can mimic traumatic injuries. Herpes simplex is the most common misdiagnosis in the neonate with blisters and seizures. The additional findings in IP of hyperpigmented skin streaks and hemorrhagic manifestations of the eyes and brain easily lead one to consider child abuse. IP should be included in the list of childhood diseases that can be misinterpreted as child maltreatment. FOOTNOTES Received for publication Dec 31, 1996; accepted Mar 19, 1997. Reprint requests to (L.C.) Department of Emergency Medicine, Rhode Island Hospital, 593 Eddy St, Providence, RI 02903.ABBREVIATIONS IP, incontinentia pigmenti. WBC, white blood cells. RBC, red blood cells. Hb, hemoglobin. PT, prothrombin time. PTT, partial thromboplastin time. CT, computed tomography. REFERENCES

National Center on Child Abuse and Neglect. Study Findings: Study of National Incidence and Prevalence of Child Abuse and Neglect1988. Washington, DC: Department of Health and Human Services; 1988

Jake Lang looks like a normal, active, healthy 2-year-old. But if you look closely, a pink cluster of what look like pin pricks curves around the back of his neck and up into his scalp. "That means another flare is coming on," said his mother, Terra Lang, 26, an executive field rep for the Cincinnati Better Business Bureau.

"That's how it starts."

Left untreated, the pin pricks would spread, grow and fester, until they would look like cigarette burns. Eventually, he would get an infection and die. Jake suffers from an extremely rare condition known as IgA pemphigus. His mother said there are fewer than 50 documented cases of the disease in the U.S. There is no cure, and the most effective treatment is expensive: $15,000 a month, administered over 18 months. For Jake, it started in October, shortly after he received the full run of immunizations all children should get when they reach the age of 2 for the normal assortment of childhood illnesses: mumps, measles and the like.

The rash that broke out was all over his body. His mother took him to one hospital, then another. The diagnoses ranged from measles to eczema, from ringworm to dermatitis to impetigo. The rash began to look more like the blisters associated with chickenpox, then like open festers. Then Jake began sloughing off chunks of skin, similar to what happens with third-degree burns.

It was Jake's family doctor who pegged it. He diagnosed pemphigus early last month. Mrs. Lang described pemphigus as an auto-immune disease that causes Jake's antibodies to, basically, eat his skin. The "IgA" component is the name of the specific antibody.

"They tell me remission is possible, but not probable," said Mrs. Lang.

She and her husband, Michael, an IT tech for the University of Cincinnati Foundation, live in Springfield Township with their three children. A fourth child, Nathan, died shortly after birth in November 2000. Jake is their youngest.

Jake was referred by a dermatology specialist at Cincinnati Children's Hospital Medical Center to a dermatologist at Texas Children's Hospital at Baylor University in Houston who has treated another pediatric pemphigus patient into remission. His parents took him there in mid-March.

Jake is on a regimen of seven medications, including prednisone, a powerful steroid with a range of side effects. The medications have cleared up the rash for the time being, Mrs. Lang said. But she said it appears to be coming back.

"We're trying to raise money to go back to Houston," she said.

"The doctor there has suggested we move there -- she wants to see us every six to eight weeks. We'll go again when we can afford it -- our insurance won't cover the cost of travel or treatment. And right now, we're living from paycheck to paycheck."

Mrs. Lang is planning a dinner benefit for Thursday at Receptions Banquet & Conference Center at 1379 Donaldson Highway in Boone County. Tickets are $20 in advance or $30 at the door. To make reservations, call Mrs. Lang at 513-674-0486 or 513-477-7692 or e-mail her at tlang828@hotmail.com. Donations also can be made to the Jacob Lang Fund (account number 130103235698) at any US Bank.

"When you have a child, you don't care what you could lose, you don't care about what things cost," Mrs. Lang said.

"I've already lost one child -- I will not lose another. But just now, we're feeling pretty helpless."